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Case Reports
, 100 (5-6), 606-10

Two SRY-negative XX Male Brothers Without Genital Ambiguity

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Case Reports

Two SRY-negative XX Male Brothers Without Genital Ambiguity

J C Zenteno et al. Hum Genet.

Abstract

We report a Mexican family in which two sibs were identified as "classic" XX males without genital ambiguities. Molecular studies revealed that both patients were negative for several Y sequences, including SRY. A review of familial cases disclosed that this is the first family where a complete male phenotype was observed in Y-negative XX male non-twin brothers. These data suggest that an inherited loss-of-function mutation, in a gene participating in the sex-determining cascade, can induce normal male sexual differentiation in the absence of SRY.

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